genetics

Question 1

chediak-higashi syndrome

Answer 1

AR neutrophil-phagosome-lysosome fusion, neurological abnormalities, partial albinism, immunodeficiency caused by defective neutrophils

Question 2

Cori disease

Answer 2

debranching enzyme deficiency, s/s: hypoglycemia, ketoacidosis, hepatomegaly. causes dextrin-like deposits in hepatocytes

Question 3

pompe’s disease

Answer 3

lysosomal acid maltase deficiency s/s: cardiomegaly, severe generalized hypotonia. glycogen accumulation in lysosomes

Question 4

pyruvate kinase deficiency inhibits which process and causes what type of anemia?

Answer 4

inhibits glycolysis which in turn leads to hemolytic anemia

Question 5

achondroplasia

Answer 5

mutation in fibroblast growth factor receptor-3. normal spine length but short limbs. spontaneous mutation (85%), autosomal dominant (15%). 50% risk of transmission

Question 6

malabsorption syndrome that causes decrease synthesis of apo B causing decrease in cholesterol synthesis. Presents in first year of life (AR)

Answer 6

Abeta-lipoproteinemia

Question 7

Autosomal dominant Genetic disorder causing low levels of C1 esterase inhibitor

Answer 7

Hereditary angioedema. Do not use ace inhibitors in these pts.